Canonical Allele Identifier: CA3064141

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828641T>C , CM000666.2:g.121828641T>C	GRCh38
NC_000004.11:g.122749796T>C , CM000666.1:g.122749796T>C	GRCh37
NC_000004.10:g.122969246T>C	NCBI36
NG_009111.1:g.46847A>G
NG_052974.1:g.361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1764A>G MANE Select	ENSP00000264499.4:p.Lys588=
ENST00000264499.8:c.1764A>G	ENSP00000264499.4:p.Lys588=
ENST00000506636.1:c.1764A>G	ENSP00000423626.1:p.Lys588=
ENST00000507814.5:c.33A>G	ENSP00000423250.1:p.Lys11=
NM_018190.3:c.1764A>G	NP_060660.2:p.Lys588=
NM_176824.2:c.1764A>G	NP_789794.1:p.Lys588=
XM_005263106.2:c.1767A>G	XP_005263163.1:p.Lys589=
XM_011532079.1:c.1812A>G	XP_011530381.1:p.Lys604=
XM_011532080.1:c.1809A>G	XP_011530382.1:p.Lys603=
XM_011532081.1:c.1647A>G	XP_011530383.1:p.Lys549=
XM_005263106.4:c.1767A>G	XP_005263163.1:p.Lys589=
XM_011532079.3:c.1812A>G	XP_011530381.1:p.Lys604=
XM_011532080.3:c.1809A>G	XP_011530382.1:p.Lys603=
XM_011532081.3:c.1647A>G	XP_011530383.1:p.Lys549=
XM_017008357.2:c.1599A>G	XP_016863846.1:p.Lys533=
XM_017008358.2:c.1602A>G	XP_016863847.1:p.Lys534=
NM_176824.3:c.1764A>G MANE Select	NP_789794.1:p.Lys588=
NM_018190.4:c.1764A>G	NP_060660.2:p.Lys588=